家族性吞咽困难：嗜酸性粒细胞性食管炎。

Familial dysphagia: eosinophilic esophagitis.

机构信息

UGC Aparato Digestivo, Hospital Universitario San Cecilio , España.

UGC Aparato Digestivo, Hospital Universitario San Cecilio, España.

出版信息

Rev Esp Enferm Dig. 2020 Jan;112(1):77-78. doi: 10.17235/reed.2019.6610/2019.

DOI:10.17235/reed.2019.6610/2019

PMID:31909633

Abstract

We present a family with several cases of eosinophilic esophagitis. Some cases of eosinophilic esophagitis in the same family have been previously described. Patients with eosinophilic esophagitis present frequently atopy, and atopy has a strong family association due to complex interactions between genetic and environment. However, eosinophilic esophagitis has a stronger genetic component than other atopic diseases. Eosinophilic esophagitis has been linked to variations in genes like eotaxin-3, TSLP and its receptor and CAPN14, although the inheritance pattern has not yet well defined.

摘要

我们呈现了一个家族中存在数例嗜酸性粒细胞性食管炎的病例。此前曾有描述过家族中存在数例嗜酸性粒细胞性食管炎的病例。嗜酸性粒细胞性食管炎患者常伴有特应症，由于遗传和环境之间的复杂相互作用，特应症具有强烈的家族关联性。然而，与其他特应性疾病相比，嗜酸性粒细胞性食管炎具有更强的遗传成分。尽管遗传模式尚未明确，但嗜酸性粒细胞性食管炎与 eotaxin-3、TSLP 及其受体和 CAPN14 等基因的变异有关。